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Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.
Kuehne, Benjamin; Heine, Eva; Dafsari, Hormos Salimi; Irwin, Raphael; Heller, Raoul; Bangen, Ursula; Brockmeier, Konrad; Kribs, Angela; Oberthuer, André; Cirak, Sebahattin.
Afiliação
  • Kuehne B; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Neonatology and Pediatric Intensive Care Medicine, Germany.
  • Heine E; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Neonatology and Pediatric Intensive Care Medicine, Germany.
  • Dafsari HS; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Germany; University of Cologne, Medical Faculty, Center for Molecular Medicine Cologne (CMMC), Germany.
  • Irwin R; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Germany; University of Cologne, Medical Faculty, Center for Molecular Medicine Cologne (CMMC), Germany.
  • Heller R; University of Cologne, Medical Faculty, Institute of Human Genetics, Germany; University of Cologne, Medical Faculty and University Hospital, Centre for Rare Disease Cologne, Germany.
  • Bangen U; University of Cologne, Medical Faculty and University Hospital, Department of Pediatric Cardiology, Germany.
  • Brockmeier K; University of Cologne, Medical Faculty and University Hospital, Department of Pediatric Cardiology, Germany.
  • Kribs A; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Neonatology and Pediatric Intensive Care Medicine, Germany.
  • Oberthuer A; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Neonatology and Pediatric Intensive Care Medicine, Germany.
  • Cirak S; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Germany; University of Cologne, Medical Faculty, Center for Molecular Medicine Cologne (CMMC), Germany. Electronic address: Sebahattin.Cirak@uk-koeln.de.
Mol Cell Probes ; 45: 89-93, 2019 06.
Article em En | MEDLINE | ID: mdl-30885829

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas p21(ras) / Gravidez de Gêmeos / Sequenciamento do Exoma Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Mol Cell Probes Assunto da revista: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas p21(ras) / Gravidez de Gêmeos / Sequenciamento do Exoma Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Mol Cell Probes Assunto da revista: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido